Clinical and histological characteristics of livedo racemosa in essential thrombocythemia: A report of two cases and review of the published works.
Clinical and histological characteristics of livedo racemosa in essential thrombocythemia: A report of two cases and review of the published works.
复制标题
原发性血小板增多症的总状青斑的临床和组织学特征：两例报告及已发表作品的回顾。
DOI：
10.1111/1346-8138.13561
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发表时间：
2017
期刊：
影响因子：
--
通讯作者：
Fujimoto M
中科院分区：
文献类型：
--
作者：
Inoue S;Okiyama N;Okune M;Shiraki N;Kessoku R;Fujimoto M
原发性血小板增多症（ET）是一种罕见的克隆性骨髓增生性疾病，每年的患病率约为每10万人中1-3例。ET的特点是血小板计数持续增加，骨髓巨核细胞增生。ET的诊断是困难的，因为大多数血小板增多症是对某些疾病的反应，包括缺铁性贫血、感染、胶原蛋白疾病和恶性肿瘤。在大约50-70%的ET患者中存在Janus激酶（JAK）2基因突变，最近在大约20-25%的散发性ET或原发性骨髓纤维化患者中发现了钙网蛋白（CALR）基因的体细胞突变。ET的各种皮肤表现通常由微血管血栓形成引起，在其他器官发生严重的动脉和静脉血栓栓塞事件之前。因此，为了防止此类严重事件的发生，根据多种皮肤表现对ET进行早期诊断非常重要。在这里，我们报告了两例基于JAK2和CALR基因突变的脚上的活do总状斑诊断的ET，并显示了由血小板血栓形成而不是血管炎引起的活do的病理和免疫组织学结果。我们也回顾了目前发表的日本ET患者的皮肤表现。我们的患者成功地接受了低剂量阿司匹林、一种血管降压药和羟基脲的治疗，随后他们的生活水平下降，血小板计数减少。
Essential thrombocythemia (ET) is a rare clonal myeloproliferative disorder with a prevalence rate of approximately 1–3 cases per 100 000 individuals per year. ET is characterized by a persistent increase in the platelet count with hyperplasia of bone marrow megakaryocytes. It is difficult to make a diagnosis of ET, because most thrombocythemia are reactive to certain disease conditions including iron deficiency anemia, infection, collagen diseases and malignant tumors. Mutation in the Janus kinase (JAK)2 gene is present in approximately 50–70% of ET patients, and somatic mutations in the calreticulin (CALR) gene were recently discovered in approximately 20–25% of sporadic patients with ET or primary myelofibrosis. Various cutaneous manifestations of ET often occur by microvascular thrombosis and precede severe arterial and venous thromboembolic events in other organs. Therefore, in order to prevent such severe events, it is important to make an early diagnosis of ET based on a number of cutaneous manifestations. Here, we report two cases of ET diagnosed based on livedo racemosa on feet with gene mutations in JAK2 and CALR, respectively, and show the pathological and immunohistological findings of the livedo resulting from platelet thrombosis rather than vasculitis. We also review the cutaneous manifestations in current published reports of Japanese ET patients. Our patients were successfully treated with low‐dose aspirin, a vasodepressor and hydroxyurea, following regressed livedo and reduced platelet counts.